Scholars@Duke
Mai ElMallah

Mai ElMallah

Professor of Pediatrics
Pediatrics, Pulmonary and Sleep Medicine
mai.elmallah@duke.edu
2301 Erwin Road, Durham, NC 27710

Selected Publications

AAV9 gene therapy to target respiratory insufficiency in the D2.mdx mouse model of duchenne muscular dystrophy.

Journal Article Respir Physiol Neurobiol · 2026 Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by a deficiency of dystrophin. Dystrophin deficiency leads to progressive muscle weakness, including involvement of the respiratory muscles, ultimately resulting in respiratory fail ... Full text Link to item Cite

Predictors of respiratory decline in neuromuscular disorders.

Journal Article Respir Med · January 2026 Neuromuscular diseases (NMDs) constitute a heterogeneous group of genetic and acquired disorders that lead to progressive muscle weakness. When the respiratory muscles are involved, impaired ventilation and ineffective airway clearance become a major sourc ... Full text Link to item Cite

Complete neutralizing antibody evasion by serodivergent non-mammalian AAVs enables gene therapy redosing.

Journal Article Cell Rep Med · December 16, 2025 The use of adeno-associated virus (AAV) as a gene therapy vector is significantly limited by pre-existing immunity. The high seroprevalence and broad antigenic cross-reactivity of primate-derived AAVs restrict patient eligibility and preclude therapeutic r ... Full text Link to item Cite

Consensus recommendations and considerations for the delivery and monitoring of gene therapy in patients with Duchenne muscular dystrophy.

Journal Article Neuromuscul Disord · September 2025 Gene transfer therapy represents a major advancement in the treatment of patients with Duchenne muscular dystrophy (DMD). As clinical use expands, there is an urgent need for standardized, evidence and practice-informed guidelines to ensure safe and equita ... Full text Link to item Cite

Decarbonization Potential of Alternative Fuels in Container Shipping: A Case Study of the EVER ALOT Vessel

Journal Article Environments Mdpi · September 1, 2025 Environmental emissions from the maritime sector, including CO2, NOx, and SOx, contribute significantly to global air pollution and climate change. The International Maritime Organization (IMO) has set a target to reduce gr ... Full text Cite

Neuromuscular junction transcriptome analysis of spinal and bulbar muscular atrophy mice implicates sarcomere gene expression and calcium flux dysregulation in disease pathogenesis.

Journal Article Hum Mol Genet · July 3, 2025 X-linked Spinal and Bulbar Muscular Atrophy (SBMA) is a rare, late-onset neuromuscular disease caused by a CAG repeat expansion mutation in the androgen receptor (AR) gene. SBMA is characterized by progressive muscle atrophy of both neurogenic and myopathi ... Full text Link to item Cite

GAA replacement improves respiratory muscle, neural, and alveolar pathology in the pompe mouse.

Journal Article Respir Physiol Neurobiol · July 2025 Pompe disease is a devastating neuromuscular disorder caused by mutations in the gene GAA. These mutations result in a deficiency of the enzyme acid α-glucosidase (GAA), leading to lysosomal glycogen accumulation in cardiac, skeletal, and smooth muscle, mo ... Full text Link to item Cite

Using Order Sets to Increase Pediatric Pulmonary Follow-up After Asthma Exacerbation Emergency Department Visit

Conference American Journal of Respiratory and Critical Care Medicine · May 2025 Full text Cite

Gene Therapy for Respiratory Pathology in Duchenne Muscular Dystrophy

Conference American Journal of Respiratory and Critical Care Medicine · May 2025 Full text Cite

PPMO treatment improves respiratory function in the mdx mouse model of Duchenne Muscular Dystrophy

Conference Physiology · May 2025 Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by dystrophin deficiency. Respiratory complications due to progressive muscle weakness are a major cause of morbidity and mortality in DMD. Exon skipping therapy, mediated ... Full text Cite

Molecular modulation in Pompe disease following acute intermittent hypoxia

Conference Physiology · May 2025 Pompe disease results in cardiorespiratory distress secondary to glycogen accumulation in the lysosomes of all muscle types and motor neurons. The only approved treatment is enzyme replacement therap ... Full text Cite

Progressive central cardiorespiratory rate downregulation and intensifying epilepsy lead to sudden unexpected death in epilepsy in mouse model of the most common human ATP1A3 mutation.

Journal Article Epilepsia · March 2025 OBJECTIVE: This study was undertaken to test the following hypotheses in the Atp1a3Mashl/+ mouse (which carries the most common human ATP1A3 (the major subunit of the neuronal Na+/K+-adenosine triphosphatase [ATPase]) mutation, D801N): sudden unexpected de ... Full text Link to item Cite

Respiratory pathology in the mdx/utrn-/- mouse: A murine model for Duchenne Muscular Dystrophy (DMD)

Conference Plos One · February 1, 2025 Duchenne muscular dystrophy (DMD) is an X-linked devastating disease caused by a lack of dystrophin which results in progressive muscle weakness. As muscle weakness progresses, respiratory insufficiency and hypoventilation result in significant morbidity a ... Full text Cite

Respiratory pathology in the mdx/utrn -/- mouse: A murine model for Duchenne Muscular Dystrophy (DMD).

Journal Article PLoS One · 2025 Duchenne muscular dystrophy (DMD) is an X-linked devastating disease caused by a lack of dystrophin which results in progressive muscle weakness. As muscle weakness progresses, respiratory insufficiency and hypoventilation result in significant morbidity a ... Full text Link to item Cite

The feasibility of utilizing hydrogen fuel cells in livestock ships to mitigate greenhouse gas emissions

Journal Article Nativa · January 1, 2025 Global warming and air pollution are undoubtedly the major issues of our time. As livestock is considered the main source of protein and dairy products and one of the main food sources for humanity, in some regions of the world, livestock vessels serve as ... Full text Cite

Therapeutic acute intermittent hypoxia modestly improves breathing in Pompe disease.

Journal Article Respir Physiol Neurobiol · 2025 Pompe disease is an autosomal recessive neuromuscular disorder characterized by a deficiency of acid α-glucosidase (GAA), an enzyme responsible for lysosomal glycogen degradation in all cells. Respiratory distress is a common symptom among patients with Po ... Full text Link to item Cite

Reducing Methane Emissions on Livestock Ships in Order to Mitigate Greenhouse Gas Emissions and Promote Future Maritime Sustainability

Journal Article Transnav · December 1, 2024 One of the main causes of climate change and global warming is greenhouse gas emissions. Livestock makes up 15% of the world's greenhouse gases (GHG), whereas maritime shipping accounts for 3%. Cattle can produce about 500 grams of methane a day per cow. T ... Full text Cite

Lung abscess following a foreign body extraction.

Journal Article BMJ Case Rep · August 12, 2024 Lung abscesses are uncommon in the paediatric population, often manifesting with cough, shortness of breath, chest pain and fever. A high index of suspicion is imperative to prevent delays in treatment. This is a case report of a previously healthy child i ... Full text Link to item Cite

Respiratory characterization of a humanized Duchenne muscular dystrophy mouse model.

Journal Article Respir Physiol Neurobiol · August 2024 Duchenne muscular dystrophy (DMD) is the most common X-linked disease. DMD is caused by a lack of dystrophin, a critical structural protein in striated muscle. Dystrophin deficiency leads to inflammation, fibrosis, and muscle atrophy. Boys with DMD have pr ... Full text Link to item Cite

The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.

Journal Article HGG Adv · July 18, 2024 Biallelic loss-of-function variants in the MUSK gene result in two allelic disorders: (1) congenital myasthenic syndrome (CMS; OMIM: 616325), a neuromuscular disorder that has a range of severity from severe neonatal-onset weakness to mild adult-onset weak ... Full text Link to item Cite

Respiratory neuropathology in spinocerebellar ataxia type 7.

Journal Article JCI Insight · July 18, 2024 Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurological disorder caused by deleterious CAG repeat expansion in the coding region of the ataxin 7 gene (polyQ-ataxin-7). Infantile-onset SCA7 leads to severe clinical manifestation of respir ... Full text Link to item Cite

Characteristics of non-sleep related apneas in children with alternating hemiplegia of childhood.

Journal Article Eur J Paediatr Neurol · January 2024 BACKGROUND: Non-sleep related apnea (NSA) has been observed in alternating hemiplegia of childhood (AHC) but has yet to be characterized. GOALS: Investigate the following hypotheses: 1) AHC patients manifest NSA that is often severe. 2) NSA is usually trig ... Full text Link to item Cite

Respiratory pathology in the TDP-43 transgenic mouse model of amyotrophic lateral sclerosis.

Journal Article Front Physiol · 2024 Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease that results in death within 2-5 years of diagnosis. Respiratory failure is the most common cause of death in ALS. Mutations in the transactive response DNA binding protein 43 ( ... Full text Link to item Cite

Reduction of the methane emissions on livestock ships to mitigate greenhouse gas emissions and promote future maritime transport sustainability

Journal Article Nativa · January 1, 2024 One of the main causes of climate change and global warming is greenhouse gas emissions. Livestock makes up 15% of the world's greenhouse gases (GHG), whereas maritime shipping accounts for 3%. Cattle can produce about 500 grams of methane a day per cow. T ... Full text Cite

Transitional cell states sculpt tissue topology during lung regeneration.

Journal Article Cell Stem Cell · November 2, 2023 Organ regeneration requires dynamic cell interactions to reestablish cell numbers and tissue architecture. While we know the identity of progenitor cells that replace lost tissue, the transient states they give rise to and their role in repair remain elusi ... Full text Link to item Cite

GAA deficiency disrupts distal airway cells in Pompe disease.

Journal Article Am J Physiol Lung Cell Mol Physiol · September 1, 2023 Pompe disease is an autosomal recessive glycogen storage disease caused by mutations in the gene that encodes acid alpha-glucosidase (GAA)-an enzyme responsible for hydrolyzing lysosomal glycogen. GAA deficiency results in systemic lysosomal glycogen accum ... Full text Link to item Cite

ATS Core Curriculum 2022. Pediatric Pulmonary Medicine: Updates in pediatric neuromuscular disease.

Journal Article Pediatr Pulmonol · July 2023 The American Thoracic Society Core Curriculum updates clinicians annually in pediatric pulmonary disease. This is a concise review of the Pediatric Pulmonary Medicine Core Curriculum presented at the 2022 American Thoracic Society International Conference. ... Full text Link to item Cite

X-linked SBMA model mice display relevant non-neurological phenotypes and their expression of mutant androgen receptor protein in motor neurons is not required for neuromuscular disease.

Journal Article Acta Neuropathol Commun · June 2, 2023 X-linked spinal and bulbar muscular atrophy (SBMA; Kennedy's disease) is a rare neuromuscular disorder characterized by adult-onset proximal muscle weakness and lower motor neuron degeneration. SBMA was the first human disease found to be caused by a repea ... Full text Link to item Cite

Alveolar Cell Pathology in Pompe Disease

Conference B54. EARLY ORIGINS OF PEDIATRIC LUNG DISEASE · May 2023 Full text Cite

Respiratory Dysfunction in TDP-43 A315T Mice-Mouse Model of Amyotrophic Lateral Sclerosis

Conference C109. EVEN BETTER THAN THE REAL THING: ADVANCED MODELS OF LUNG DISEASE · May 2023 Full text Cite

Pompe mice have improved respiration during hypercapnic challenge following acute intermittent hypoxia

Conference Physiology · May 2023 Pompe disease results in cardiorespiratory distress secondary to glycogen accumulation in the lysosomes of all muscle types and motor neurons. The only approved treatment is enzyme replacement therapy (ERT), which improves survival, however, it ca ... Full text Cite

Congenital lobar emphysema in monozygotic twins.

Journal Article Respir Med Case Rep · 2023 Congenital lobar emphysema (CLE) is caused by airway defects resulting in air trapping and hyperinflation of the affected lobe. Case reports of families affected with CLE imply a genetic etiology. However, the genetic contributions have not been well-descr ... Full text Link to item Cite

Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives.

Journal Article Ther Clin Risk Manag · 2023 Pompe disease (PD) is a neuromuscular disorder caused by a deficiency of acid alpha-glucosidase (GAA) - a lysosomal enzyme responsible for hydrolyzing glycogen. GAA deficiency leads to accumulation of glycogen in lysosomes, causing cellular disruption. The ... Full text Link to item Cite

A Large Lung Abscess: A Foreign Body or an Unusual Bronchoscopy Complication?

Conference AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE · 2023 Cite

Neuro-respiratory pathology in spinocerebellar ataxia.

Journal Article J Neurol Sci · December 15, 2022 The spinocerebellar ataxias (SCA) are a heterogeneous group of neurodegenerative disorders with an autosomal dominant inheritance. Symptoms include poor coordination and balance, peripheral neuropathy, impaired vision, incontinence, respiratory insufficien ... Full text Link to item Cite

Cross-species evolution of a highly potent AAV variant for therapeutic gene transfer and genome editing.

Journal Article Nat Commun · October 10, 2022 Recombinant adeno-associated viral (AAV) vectors are a promising gene delivery platform, but ongoing clinical trials continue to highlight a relatively narrow therapeutic window. Effective clinical translation is confounded, at least in part, by difference ... Full text Link to item Cite

What's new and what's next for gene therapy in Pompe disease?

Journal Article Expert Opin Biol Ther · September 2022 INTRODUCTION: Pompe disease is an autosomal recessive disorder caused by a deficiency of acid-α-glucosidase (GAA), an enzyme responsible for hydrolyzing lysosomal glycogen. A lack of GAA leads to accumulation of glycogen in the lysosomes of cardiac, skelet ... Full text Link to item Cite

Breathing in Duchenne muscular dystrophy: translation to therapy.

Journal Article J Physiol · August 2022 Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disease caused by a deficiency in dystrophin - a structural protein which stabilises muscle during contraction. Dystrophin deficiency adversely affects the respiratory system leading to sleep-d ... Full text Link to item Cite

GAA Deficiency Disrupts Distal Airway Cells in Pompe Disease

Journal Article FASEB journal : official publication of the Federation of American Societies for Experimental Biology · May 1, 2022 Pompe disease is an autosomal recessive glycogen storage disease caused by mutations in alpha-glucosidase (GAA) - an enzyme responsible of hydrolyzing lysosomal glycogen. GAA deficiency results in systemic lysosomal glycogen accumulation and cellular disru ... Full text Cite

Accumulation of pathological Ataxin-7 in the medulla leads to hypoglossal (XII) motor unit pathology

Conference FASEB journal : official publication of the Federation of American Societies for Experimental Biology · May 1, 2022 SCA7 is an autosomal dominant neurological disorder caused by a deleterious CAG repeat expansion in the coding region of the ataxin-7 gene on chromosome 3. Patients with infantile SCA-7 have the largest repeat expansion characterized by progressive loss of ... Full text Cite

Genetic deletion of the Tas2r143/Tas2r135/Tas2r126 cluster reveals that TAS2Rs may not mediate bitter tastant-induced bronchodilation.

Journal Article J Cell Physiol · September 2021 Bitter taste receptors (TAS2Rs) and their signaling elements are detected throughout the body, and bitter tastants induce a wide variety of biological responses in tissues and organs outside the mouth. However, the roles of TAS2Rs in these responses remain ... Full text Link to item Cite

Respiratory dysfunction in a mouse model of spinocerebellar ataxia type 7.

Journal Article Dis Model Mech · July 1, 2021 Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant neurodegenerative disorder caused by a CAG repeat expansion in the coding region of the ataxin-7 gene. Infantile-onset SCA7 patients display extremely large repeat expansions (>200 CAGs) and exh ... Full text Link to item Cite

Respiratory Pathology in a Humanized Mouse Model of Duchenne Muscular Dystrophy

Conference The FASEB Journal · May 2021 Duchenne muscular dystrophy (DMD) is the most common X‐linked disease affecting 1 in 3500 male births. DMD is characterized by mutations in the DMD gene, which ... Full text Cite

Phrenic and Hypoglossal motor unit pathology in a Spinocerebellar ataxia type 7 mouse model

Conference The FASEB Journal · May 2021 Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disorder caused by a deleterious CAG repeat expansion in the coding region of the ataxin‐7 ... Full text Cite

Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3Mashl/+, Mouse Model of Alternating Hemiplegia of Childhood.

Journal Article Hum Gene Ther · April 2021 Alternating Hemiplegia of Childhood (AHC) is a devastating autosomal dominant disorder caused by ATP1A3 mutations, resulting in severe hemiplegia and dystonia spells, ataxia, debilitating disabilities, and premature death. Here, we determine the effects of ... Full text Link to item Cite

Total serum immunoglobulin A in ALS.

Journal Article Amyotroph Lateral Scler Frontotemporal Degener · February 2021 Amyotrophic lateral sclerosis (ALS) can have marked phenotypic variability. To date, no biomarker explains this variability. This study tested the hypothesis that immunoglobulin A (IgA) levels might help explain the variability seen in ALS clinical present ... Full text Link to item Cite

Glycogen accumulation in smooth muscle in the Pompe disease mouse

Conference Molecular Genetics and Metabolism · February 2021 Full text Cite

Glycogen accumulation in smooth muscle of a Pompe disease mouse model.

Journal Article J Smooth Muscle Res · 2021 Pompe disease is a lysosomal storage disease caused by mutations within the GAA gene, which encodes acid α-glucosidase (GAA)-an enzyme necessary for lysosomal glycogen degradation. A lack of GAA results in an accumulation of glycogen in cardiac and skeleta ... Full text Link to item Cite

Respiratory pathology in the Optn-/- mouse model of Amyotrophic Lateral Sclerosis.

Journal Article Respir Physiol Neurobiol · November 2020 Amyotrophic Lateral Sclerosis (ALS) is a devastating neurodegenerative disorder that results in death due to respiratory failure. Many genetic defects are associated with ALS; one such defect is a mutation in the gene encoding optineurin (OPTN). Using an o ... Full text Link to item Cite

Intralingual Administration of AAVrh10-miRSOD1 Improves Respiratory But Not Swallowing Function in a Superoxide Dismutase-1 Mouse Model of Amyotrophic Lateral Sclerosis.

Journal Article Hum Gene Ther · August 2020 Amyotrophic lateral sclerosis (ALS) is a fatal disease characterized by degeneration of motor neurons and muscles, and death is usually a result of impaired respiratory function due to loss of motor neurons that control upper airway muscles and/or the diap ... Full text Link to item Cite

Comparisons of Infant and Adult Mice Reveal Age Effects for Liver Depot Gene Therapy in Pompe Disease.

Journal Article Mol Ther Methods Clin Dev · June 12, 2020 Pompe disease is caused by the deficiency of lysosomal acid α-glucosidase (GAA). It is expected that gene therapy to replace GAA with adeno-associated virus (AAV) vectors will be less effective early in life because of the rapid loss of vector genomes. AAV ... Full text Open Access Link to item Cite

Intralingual and Intrapleural AAV Gene Therapy Prolongs Survival in a SOD1 ALS Mouse Model.

Journal Article Mol Ther Methods Clin Dev · June 12, 2020 Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that results in death from respiratory failure. No cure exists for this devastating disease, but therapy that directly targets the respiratory system has the potential to prolong surv ... Full text Link to item Cite

Motor axonopathies in a mouse model of Duchenne muscular dystrophy.

Journal Article Sci Rep · June 2, 2020 Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease caused by deleterious mutations in the DMD gene which encodes the dystrophin protein. Skeletal muscle weakness and eventual muscle degradation due to loss of dystrophin are well-documented ... Full text Open Access Link to item Cite

Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.

Journal Article Genet Med · May 2020 PURPOSE: Enzyme replacement therapy (ERT) with recombinant human acid-α glucosidase (rhGAA) at standard dose of 20 mg/kg every other week is insufficient to halt the long-term progression of myopathy in Pompe disease. METHODS: We conducted a retrospective ... Full text Open Access Link to item Cite

Respiratory Dysfunction in a Mouse Model of Spinocerebellar Ataxia 7

Conference The FASEB Journal · April 2020 Spinocerebellar ataxia type 7 (SCA‐7) is a neurodegenerative polyglutamine disease within the family of spinocerebellar ataxias. Classically SCA7 is a disease o ... Full text Cite

Motor Neuron Pathology Leads to Respiratory Deficiency in Optn−/− Mice

Conference The FASEB Journal · April 2020 Amyotrophic Lateral Sclerosis (ALS) is a devastating and fatal neurodegenerative disease with no current cure. Respiratory failure is the leading cause of death in ALS. Death occurs3–5 years after diagnosis when patients with ALS ultimately succumb ... Full text Cite

The Respiratory Phenotype of Pompe Disease Mouse Models.

Journal Article Int J Mol Sci · March 24, 2020 Pompe disease is a glycogen storage disease caused by a deficiency in acid α-glucosidase (GAA), a hydrolase necessary for the degradation of lysosomal glycogen. This deficiency in GAA results in muscle and neuronal glycogen accumulation, which causes respi ... Full text Link to item Cite

Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.

Journal Article Pediatr Pulmonol · March 2020 OBJECTIVES: To report the respiratory function of school-aged children with infantile Pompe disease (IPD) who started enzyme replacement therapy (ERT) in infancy and early childhood. STUDY DESIGN: This is a retrospective chart review of pulmonary function ... Full text Link to item Cite

Gene therapy

Chapter · October 25, 2019 Cancer gene therapy is an emerging and exciting field in cancer therapeutics that offers promising treatments for both hematological and solid tumors. The goals of cancer gene therapy are to overexpress a desired protein, to restore normal cellular phenoty ... Full text Cite

Pollen-derived RNAs Are Found in the Human Circulation.

Journal Article iScience · September 27, 2019 The presence of nonhuman RNAs in man has been questioned and it is unclear if food-derived miRNAs cross into the circulation. In a large population study, we found nonhuman miRNAs in plasma by RNA sequencing and validated a small number of pine-pollen miRN ... Full text Link to item Cite

AAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency.

Journal Article J Inherit Metab Dis · September 2019 Very-long chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an autosomal recessive disorder of fatty acid oxidation. Fatty acids are a major source of energy during catabolic stress, so the absence of VLCAD can result in a metabolic crises and re ... Full text Link to item Cite

Macroglossia, Motor Neuron Pathology, and Airway Malacia Contribute to Respiratory Insufficiency in Pompe Disease: A Commentary on Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases.

Journal Article Int J Mol Sci · February 11, 2019 The authors of the recently published, "Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases", provide an important review of the various mechanisms of lysosomal storage diseases (LSD) and how they culminate in similar clinical path ... Full text Link to item Cite

Systemic Delivery of AAVB1-GAA Clears Glycogen and Prolongs Survival in a Mouse Model of Pompe Disease.

Journal Article Hum Gene Ther · January 2019 Pompe disease is an autosomal recessive glycogen storage disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). GAA deficiency results in systemic lysosomal glycogen accumulation and cellular disruption in muscle and the centra ... Full text Link to item Cite

The Respiratory Phenotype of Rodent Models of Amyotrophic Lateral Sclerosis and Spinocerebellar Ataxia.

Journal Article J Neuroinflamm Neurodegener Dis · 2019 Amyotrophic lateral sclerosis (ALS) and spinocerebellar ataxia (SCA) are neurodegenerative disorders that result in progressive motor dysfunction and ultimately lead to respiratory failure. Rodent models of neurodegenerative disorders provide a means to st ... Link to item Cite

Editing out five Serpina1 paralogs to create a mouse model of genetic emphysema.

Journal Article Proc Natl Acad Sci U S A · March 13, 2018 Featured Publication Chronic obstructive pulmonary disease affects 10% of the worldwide population, and the leading genetic cause is α-1 antitrypsin (AAT) deficiency. Due to the complexity of the murine locus, which includes up to six Serpina1 paralogs, no genetic animal model ... Full text Link to item Cite

Respiratory Directed Gene Therapy Prolongs Survival In An Als Mouse Model

Conference AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE · January 1, 2018 Link to item Cite

The impact of Pompe disease on smooth muscle: a review.

Journal Article J Smooth Muscle Res · 2018 Pompe disease (OMIM 232300) is an autosomal recessive disorder caused by mutations in the gene encoding acid α-glucosidase (GAA) (EC 3.2.1.20), the enzyme responsible for hydrolyzing lysosomal glycogen. The primary cellular pathology is lysosomal glycogen ... Full text Link to item Cite

Pediatric Obstructive Sleep Apnea and Asthma: Clinical Implications.

Journal Article Pediatr Ann · September 1, 2017 Obstructive sleep apnea (OSA) and asthma are common conditions in children with preventable long-term consequences. There is significant overlap in symptomatology and pathophysiology for pediatric OSA and asthma. Recent evidence supports clear associations ... Full text Link to item Cite

Pediatric Obstructive Sleep Apnea in High-Risk Populations: Clinical Implications.

Journal Article Pediatr Ann · September 1, 2017 Certain common medical conditions are associated with a higher risk of pediatric obstructive sleep apnea (OSA). A lower threshold for screening is therefore indicated for such patient cohorts. In this article, we briefly discuss the high prevalence of OSA ... Full text Link to item Cite

Gene Therapy 2017: Progress and Future Directions.

Journal Article Clin Transl Sci · July 2017 Featured Publication Full text Link to item Cite

Airway smooth muscle dysfunction in Pompe (Gaa-/- ) mice.

Journal Article Am J Physiol Lung Cell Mol Physiol · June 1, 2017 Featured Publication Pompe disease is an autosomal recessive disorder caused by a deficiency of acid α-glucosidase (GAA), an enzyme responsible for hydrolyzing lysosomal glycogen. Deficiency of GAA leads to systemic glycogen accumulation in the lysosomes of skeletal muscle, mo ... Full text Link to item Cite

Respiratory And Airway Smooth Muscle Pathology In A Pompe Disease Mouse Model

Conference AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE · January 1, 2017 Link to item Cite

Pathophysiology of Alpha-1 Antitrypsin Lung Disease.

Chapter · 2017 Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder characterized by low serum levels of alpha-1 antitrypsin (AAT). Loss of AAT disrupts the protease-antiprotease balance in the lungs, allowing proteases, specifically neutrophil elastase, to act ... Full text Link to item Cite

Ampakine CX717 potentiates intermittent hypoxia-induced hypoglossal long-term facilitation.

Journal Article J Neurophysiol · September 1, 2016 Featured Publication Glutamatergic currents play a fundamental role in regulating respiratory motor output and are partially mediated by α-amino-3-hydroxy-5-methyl-isoxazole-propionic acid (AMPA) receptors throughout the premotor and motor respiratory circuitry. Ampakines are ... Full text Link to item Cite

Neuropathology in respiratory-related motoneurons in young Pompe (Gaa(-/-)) mice.

Journal Article Respir Physiol Neurobiol · June 15, 2016 Respiratory and/or lingual dysfunction are among the first motor symptoms in Pompe disease, a disorder resulting from absence or dysfunction of the lysosomal enzyme acid α-glucosidase (GAA). Here, we histologically evaluated the medulla, cervical and thora ... Full text Link to item Cite

Development of rAAV2-CFTR: History of the First rAAV Vector Product to be Used in Humans.

Journal Article Hum Gene Ther Methods · April 2016 The first human gene therapy trials using recombinant adeno-associated virus (rAAV) vectors were performed in cystic fibrosis (CF) patients. Over 100 CF patients were enrolled in 5 separate trials of rAAV2-CFTR administration via nasal, endobronchial, maxi ... Full text Link to item Cite

Adeno-associated virus-delivered artificial microRNA extends survival and delays paralysis in an amyotrophic lateral sclerosis mouse model.

Journal Article Ann Neurol · April 2016 OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by loss of motor neurons, resulting in progressive muscle weakness, paralysis, and death within 5 years of diagnosis. About 10% of cases are inherited, of whi ... Full text Link to item Cite

Power spectral analysis of hypoglossal nerve activity during intermittent hypoxia-induced long-term facilitation in mice.

Journal Article J Neurophysiol · March 2016 Power spectral analyses of electrical signals from respiratory nerves reveal prominent oscillations above the primary rate of breathing. Acute exposure to intermittent hypoxia can induce a form of neuroplasticity known as long-term facilitation (LTF), in w ... Full text Link to item Cite

Characterization Of Pulmonary Mechanics Of The Sod1g93a Als Mouse Model

Conference AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE · January 1, 2016 Link to item Cite

Exercise Induced Respiratory Insufficiency In A Murine Model Of Very Long-Chain Acyl-Coa Dehydrogenase Deficiency

Conference AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE · January 1, 2016 Link to item Cite

Therapeutic rAAVrh10 Mediated SOD1 Silencing in Adult SOD1(G93A) Mice and Nonhuman Primates.

Journal Article Hum Gene Ther · January 2016 Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease; survival in ALS is typically 3-5 years. No treatment extends patient survival by more than three months. Approximately 20% of familial ALS and 1-3% of sporadic ALS patients carry a m ... Full text Link to item Cite

Stimulation of Respiratory Motor Output and Ventilation in a Murine Model of Pompe Disease by Ampakines.

Journal Article Am J Respir Cell Mol Biol · September 2015 Pompe disease results from a mutation in the acid α-glucosidase gene leading to lysosomal glycogen accumulation. Respiratory insufficiency is common, and the current U.S. Food and Drug Administration-approved treatment, enzyme replacement, has limited effe ... Full text Link to item Cite

Children with Chronic Lung Disease: Facilitating Smoking Cessation for their Caregivers.

Journal Article J Community Health · June 2015 Through a QI project at a tertiary referral pediatric pulmonary center, our objective was to establish a methodical approach to identify and engage smoking parents of children with chronic lung disease in a smoking cessation program. We hypothesized that s ... Full text Link to item Cite

Peripheral nerve and neuromuscular junction pathology in Pompe disease.

Journal Article Hum Mol Genet · February 1, 2015 Pompe disease is a systemic metabolic disorder characterized by lack of acid-alpha glucosidase (GAA) resulting in ubiquitous lysosomal glycogen accumulation. Respiratory and ambulatory dysfunction are prominent features in patients with Pompe yet the mecha ... Full text Link to item Cite

Secondhand smoke exposure in children with chronic lung disease

Chapter · January 1, 2015 Tobacco smoke is a commonly encountered air pollutant linked to chronic respiratory diseases, cardiovascular disease, and cancer in non- smokers. Non-smokers are exposed to tobacco smoke through secondhand smoke (SHS) exposure. Children are the most vulner ... Cite

Hereditary mucoepithelial dysplasia and severe respiratory distress.

Journal Article Respir Med Case Rep · 2015 Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant disorder characterized by mucoepithelial disruption of the skin, hair and mucous membranes. It results from defective gap junction formation and leads to non-scarring alopecia, mucosal ... Full text Link to item Cite

Salivary Amylase Level in Bronchoalveolar Fluid as a Marker of Chronic Pulmonary Aspiration in Children.

Journal Article Pediatr Allergy Immunol Pulmonol · September 1, 2014 Background: Chronic pulmonary aspiration is a common cause of chronic respiratory symptoms in children. However, there is no gold standard diagnostic test for aspiration. In this study, we explore the diagnostic value of measuring salivary amylase in bronc ... Full text Link to item Cite

Sustained correction of motoneuron histopathology following intramuscular delivery of AAV in pompe mice.

Journal Article Mol Ther · April 2014 Pompe disease is an autosomal recessive disorder caused by mutations in the acid-α glucosidase (GAA) gene. Lingual dysfunction is prominent but does not respond to conventional enzyme replacement therapy (ERT). Using Pompe (Gaa(-/-)) mice, we tested the hy ... Full text Link to item Cite

Ampakines Enhance Respiratory Motor Output In A Murine Model Of Pompe Disease

Conference AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE · January 1, 2014 Link to item Cite

The respiratory neuromuscular system in Pompe disease.

Journal Article Respir Physiol Neurobiol · November 1, 2013 Pompe disease is due to mutations in the gene encoding the lysosomal enzyme acid α-glucosidase (GAA). Absence of functional GAA typically results in cardiorespiratory failure in the first year; reduced GAA activity is associated with progressive respirator ... Full text Link to item Cite

Intrapleural administration of AAV9 improves neural and cardiorespiratory function in Pompe disease.

Journal Article Mol Ther · September 2013 Pompe disease is a neuromuscular disease resulting from deficiency in acid α-glucosidase (GAA), results in cardiac, skeletal muscle, and central nervous system (CNS) pathology. Enzyme replacement therapy (ERT) has been shown to partially correct cardiac an ... Full text Link to item Cite

Delivery of medications by metered dose inhaler through a chamber/mask to young children with asthma

Journal Article Pediatric Allergy Immunology and Pulmonology · December 1, 2012 Delivery of inhaled medications to children with asthma by a small-volume nebulizer is an antiquated method. Delivery by metered dose inhaler through a valved holding chamber with mask is at least equally effective, but more convenient, safer, faster, and ... Full text Cite

Retrograde gene delivery to hypoglossal motoneurons using adeno-associated virus serotype 9.

Journal Article Hum Gene Ther Methods · April 2012 Retrograde viral transport (i.e., muscle to motoneuron) enables targeted gene delivery to specific motor pools. Recombinant adeno-associated virus serotype 9 (AAV9) robustly infects motoneurons, but the retrograde transport capabilities of AAV9 have not be ... Full text Link to item Cite

Management of patients with cystic fibrosis and allergic bronchopulmonary aspergillosis using anti-immunoglobulin e therapy (omalizumab).

Journal Article J Pediatr Pharmacol Ther · January 2012 Omalizumab is a recombinant DNA-derived humanized immunoglobulin G (IgG) anti-IgE monoclonal antibody approved for use in patients with allergic asthma. However, it is not approved for allergic bronchopulmonary aspergillosis (ABPA). Conflicting reports exi ... Full text Open Access Link to item Cite

Systemic exposure to fluticasone MDI delivered through antistatic chambers.

Journal Article J Allergy Clin Immunol · November 2011 We performed this study to evaluate how age and device affect the systemic exposure of inhaled fluticasone propionate (FP) in children. The findings indicate an anti-static valved holding chamber significantly increases systemic exposure of FP. ... Full text Link to item Cite

Plastic bronchitis: resolution after heart transplantation.

Journal Article Pediatr Pulmonol · August 2011 Plastic bronchitis (PB) is a rare cause of obstructive airway disease in patients who have undergone partially corrective surgery for congenital heart disease (CHD). The etiology of plastic bronchitis in such patients is ill-defined, and treatment is ineff ... Full text Link to item Cite

Pompe disease gene therapy.

Journal Article Hum Mol Genet · April 15, 2011 Pompe disease is an autosomal recessive metabolic myopathy caused by the deficiency of the lysosomal enzyme acid alpha-glucosidase and results in cellular lysosomal and cytoplasmic glycogen accumulation. A wide spectrum of disease exists from hypotonia and ... Full text Link to item Cite

Hypoglossal neuropathology and respiratory activity in pompe mice.

Journal Article Front Physiol · 2011 Pompe disease is a lysosomal storage disorder associated with systemic deficiency of acid α-glucosidase (GAA). Respiratory-related problems in Pompe disease include hypoventilation and upper airway dysfunction. Although these problems have generally been a ... Full text Link to item Cite

Transcatheter occlusion of the patent ductus arteriosus: a comparison of two devices.

Journal Article Ir J Med Sci · 2002 BACKGROUND: Transcatheter occlusion of the arterial duct is a safe and effective alternative to surgical closure. The Rashkind umbrella occluder and the Cook coil are two established devices, although the former is no longer manufactured. AIMS: To assess a ... Full text Link to item Cite

Improvements in measures of vision and self-reported visual function after cataract extraction in patients with late-stage age-related maculopathy.

Journal Article Optom Vis Sci · September 2001 PURPOSE: A recent study indicated that patients with cataracts and early age-related maculopathy may benefit from cataract extraction. To ascertain whether cataract extraction in the presence of concurrent advanced age-related maculopathy was also associat ... Full text Link to item Cite

Amblyopia: is visual loss permanent?

Journal Article Br J Ophthalmol · September 2000 AIM: To ascertain whether recovery of visual function in amblyopic eyes is likely to occur when the fellow eye is lost as a result of age related macular degeneration. METHODS: The records of 465 patients with an established diagnosis of age related macula ... Full text Link to item Cite

Amblyopia: Is visual loss permanent.

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · 2000 Cite